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Brachyolmia-amelogenesis imperfecta syndrome

Disease definition

An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

ORPHA:2899

Classification level: Disorder
  • Synonym(s):
    • Platyspondyly-amelogenesis imperfecta syndrome
    • Verloes-Bourguignon syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 601216
  • UMLS: C1832594
  • MeSH: -
  • GARD: 5478
  • MedDRA: -

  A summary on this disease is available in Italiano (2015) Español (2015) Nederlands (2015)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.